ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) (rs45517337)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201035 SCV000255900 pathogenic Tuberous sclerosis 2 2014-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000521569 SCV000617352 pathogenic not provided 2017-10-19 criteria provided, single submitter clinical testing The Q1440X nonsense variant in the TSC2 gene has been reported previously in association withtuberous sclerosis complex (TSC) (Au et al., 2007; TSC2 LOVD). This pathogenic variant is predictedto cause loss of normal protein function either through protein truncation or nonsense-mediatedmRNA decay. The Q1440X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the presence of Q1440X is consistent with the diagnosis of TSC in this individual.
Tuberous sclerosis database (TSC2) RCV000042784 SCV000066580 not provided Tuberous sclerosis syndrome no assertion provided curation

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